gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.19849302 (EAS)
Genomes Max Group AF
0.2103856 (EAS)
Exomes Max Group AF
0.1958139 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.111073450C>G , CM000667.2:g.111073450C>G | GRCh38 |
| NC_000005.9:g.110409148C>G , CM000667.1:g.110409148C>G | GRCh37 |
| NC_000005.8:g.110437047C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000344895.4:c.217-61C>G MANE Select | ENSP00000339804.3:n.217-61C>G | |
| ENST00000344895.3:c.217-61C>G | ENSP00000339804.3:n.217-61C>G | |
| ENST00000379706.4:c.-133C>G | ENSP00000427827.1:n.-133C>G | |
| ENST00000420978.6:c.217-61C>G | ENSP00000399099.2:n.217-61C>G | |
| NM_033035.4:c.217-61C>G | NP_149024.1:n.217-61C>G | |
| NM_138551.4:c.-133C>G | NP_612561.2:n.-133C>G | |
| NR_045089.1:n.1621-61C>G | ||
| XM_011543698.1:c.-72-61C>G | XP_011542000.1:n.-72-61C>G | |
| NM_033035.5:c.217-61C>G MANE Select | NP_149024.1:n.217-61C>G | |
| NM_138551.5:c.-133C>G | NP_612561.2:n.-133C>G | |
| NR_045089.2:n.1639-61C>G |